[Hereditary pathology of the enamel and dentin. A review of molecular genetic research].

Diseases presenting "first time" symptom

• achondroplasia

• acute rheumatic fever

• adrenal incidentaloma

• adrenomyeloneuropathy

• alpha-thalassemia

• aniridia

• aromatase deficiency

• canavan disease

• carcinoma of the gallbladder

• cholangiocarcinoma

• classical phenylketonuria

• congenital adrenal hyperplasia

• congenital toxoplasmosis

• cowden syndrome

• cushing syndrome

• cutaneous mastocytosis

• dedifferentiated liposarcoma

• dentin dysplasia

• dentinogenesis imperfecta

• dracunculiasis

• dystrophic epidermolysis bullosa

• epidermolysis bullosa simplex

• erdheim-chester disease

• erythropoietic protoporphyria

• esophageal adenocarcinoma

• esophageal carcinoma

• esophageal squamous cell carcinoma

• fabry disease

• familial mediterranean fever

• gm1 gangliosidosis

• harlequin ichthyosis

• heparin-induced thrombocytopenia

• hirschsprung disease

• hodgkin lymphoma, classical

• holt-oram syndrome

• hydrocephalus with stenosis of the aqueduct of sylvius

• junctional epidermolysis bullosa

• kabuki syndrome

• kallmann syndrome

• liposarcoma

• locked-in syndrome

• lymphangioleiomyomatosis

• malignant atrophic papulosis

• megacystis-microcolon-intestinal hypoperistalsis syndrome

• monosomy 21

• neuralgic amyotrophy

• oculocutaneous albinism

• oligodontia

• omenn syndrome

• oral submucous fibrosis

• papillon-lefèvre syndrome

• pendred syndrome

• phenylketonuria

• primary effusion lymphoma

• primary hyperoxaluria type 1

• severe combined immunodeficiency

• sneddon syndrome

• triple a syndrome

• trochlear dysplasia

• von hippel-lindau disease

• waldenström macroglobulinemia

• well-differentiated liposarcoma

• werner syndrome

• wiskott-aldrich syndrome

• wolf-hirschhorn syndrome

• x-linked adrenoleukodystrophy

• zellweger syndrome